Fairy tales and genetic diseases

As a child, I listened to fairy tales of far-off places filled with disturbing villains. As I grew older, the fascination with fairy tales subsided, replaced by an interest in genetic diseases.

However, as I started reading fairy tales to my grandchildren, I began to notice how genetic diseases could have prompted some of the fearsome descriptions of giants, elves — and even vampires.

One of the most common explanations for genetic diseases in Irish and Scottish folktales is that fairies like to play tricks on humans. The fairies will steal a healthy baby and, in its place, leave a changeling on the doorstep.

The changeling is almost always a baby with birth defects. Whatever the etiology — whether a random birth defect or inherited — the emotional impact is the same. The child is not human, but rather is a trick of the fairies.

What other genetic disorders make an appearance in fairy tales and folk tales?

Elves. Elfin Child Syndrome is the name for a young person who has startlingly blue eyes, a wide smile, a kind of goofy face and a happy demeanor.  The disorder is also known as Williams Syndrome. The affected individuals are intellectually disabled.  The syndrome is due to a gene deletion. Sadly, they usually die young due to a heart defect.

Werewolves. Children can be born with hair all over their bodies. This is medically known as “hypertrichosis.” Affected children are usually kept hidden, inside the house, to avoid the ostracism and teasing they would likely face from outsiders.

Giants. As in the story of “Jack and the Beanstalk,” giants could be based on a genetic disease. In the medical profession, we call such folk “acromegaly.”The pituitary gland, which produces growth hormone, goes into overdrive, and giants grow way beyond the bounds of normal.

Vampires. The blood-sucking undead could be a story inspired by the genetic disease porphyria. This disease involves a liver defect that allows heme, a precursor to hemoglobin, to build up in the blood. The accumulation causes large blisters in the skin to appear when the individual is exposed to sunlight. The affected individual avoids sunlight and can also become anemic. One remedy is to drink animal blood to build up hemoglobin. Gums swell and recede such that their teeth appear unusually prominent. Porphyria can also cause madness. King George III of England was thought to have porphyria.

Most other denizens of fairy tales and folk tales likely have some basis in fact.

However, the stories of fairies themselves are pure fiction. In medical literature, there has never been a record of children born with wings. Fairies truly are a figment of the imagination.